Literature DB >> 28098148

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Rose Richardson1, Jane Sowden2, Christina Gerth-Kahlert3, Anthony T Moore1,4,5, Mariya Moosajee1,5,6.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28098148      PMCID： PMC5386421          DOI： 10.1038/ejhg.2016.201

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  54 in total

1.  HEREDITARY CATARACTS AND MICROPHTHALMIA.

Authors:  J A CAPELLA; H E KAUFMAN; F J LILL
Journal:  Am J Ophthalmol       Date:  1963-09       Impact factor: 5.258

2.  Complex microphthalmos.

Authors:  A H Weiss; B G Kousseff; E A Ross; J Longbottom
Journal:  Arch Ophthalmol       Date:  1989-11

3.  The descriptive epidemiology of anophthalmia and microphthalmia.

Authors:  B Källén; E Robert; J Harris
Journal:  Int J Epidemiol       Date:  1996-10       Impact factor: 7.196

4.  Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Authors:  Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias I Traboulsi; Karl W Broman; Cathy Dibernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-23       Impact factor: 11.205

5.  A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Authors:  L Morlé; M Bozon; J C Zech; N Alloisio; A Raas-Rothschild; C Philippe; J C Lambert; J Godet; H Plauchu; P Edery
Journal:  Am J Hum Genet       Date:  2000-10-13       Impact factor: 11.025

6.  A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Authors:  Rajarshi Mukhopadhyay; Panagiotis I Sergouniotis; Donna S Mackay; Alexander C Day; Genevieve Wright; Sophie Devery; Bart P Leroy; Anthony G Robson; Graham E Holder; Zheng Li; Andrew R Webster
Journal:  Mol Vis       Date:  2010-03-26       Impact factor: 2.367

7.  Confirmation of RAX gene involvement in human anophthalmia.

Authors:  L Lequeux; M Rio; A Vigouroux; M Titeux; H Etchevers; F Malecaze; N Chassaing; P Calvas
Journal:  Clin Genet       Date:  2008-09-09       Impact factor: 4.438

8.  Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Authors:  Mika Asai-Coakwell; Curtis R French; Ming Ye; Kamal Garcha; Karin Bigot; Anoja G Perera; Karen Staehling-Hampton; Silvina C Mema; Bhaskar Chanda; Arcady Mushegian; Steven Bamforth; Michael R Doschak; Guang Li; Matthew B Dobbs; Philip F Giampietro; Brian P Brooks; Perumalsamy Vijayalakshmi; Yves Sauvé; Marc Abitbol; Periasamy Sundaresan; Veronica van Heyningen; Olivier Pourquié; T Michael Underhill; Andrew J Waskiewicz; Ordan J Lehmann
Journal:  Hum Mol Genet       Date:  2009-01-06       Impact factor: 6.150

9.  First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Authors:  Jillian Casey; Riki Kawaguchi; Maria Morrissey; Hui Sun; Paul McGettigan; Jens E Nielsen; Judith Conroy; Regina Regan; Elaine Kenny; Paul Cormican; Derek W Morris; Peter Tormey; Muireann Ní Chróinín; Breandan N Kennedy; SallyAnn Lynch; Andrew Green; Sean Ennis
Journal:  Hum Mutat       Date:  2011-09-29       Impact factor: 4.878

Review 10.  The genetic architecture of microphthalmia, anophthalmia and coloboma.

Authors:  Kathleen A Williamson; David R FitzPatrick
Journal:  Eur J Med Genet       Date:  2014-05-22       Impact factor: 2.708
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  4 in total

Review 1.  Genetic Variations of Vitamin A-Absorption and Storage-Related Genes, and Their Potential Contribution to Vitamin A Deficiency Risks Among Different Ethnic Groups.

Authors:  Masako Suzuki; Meika Tomita
Journal:  Front Nutr       Date:  2022-04-28

2.  Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Authors:  Diana Matías-Pérez; Leopoldo A García-Montaño; Marisa Cruz-Aguilar; Iván A García-Montalvo; Jessica Nava-Valdéz; Tania Barragán-Arevalo; Cristina Villanueva-Mendoza; Camilo E Villarroel; Clavel Guadarrama-Vallejo; Rocío Villafuerte-de la Cruz; Oscar Chacón-Camacho; Juan C Zenteno
Journal:  J Hum Genet       Date:  2018-09-04       Impact factor: 3.172

Review 3.  The Molecular Basis of Human Anophthalmia and Microphthalmia.

Authors:  Philippa Harding; Mariya Moosajee
Journal:  J Dev Biol       Date:  2019-08-14

4.  Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Authors:  Daniel Jackson; Samantha Malka; Philippa Harding; Juliana Palma; Hannah Dunbar; Mariya Moosajee
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-08-23       Impact factor: 3.908
  4 in total

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